Broadening the phenotype of the TWNK gene associated Perrault syndrome.

ABSTRACT:

Background

Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome. None of these publications reported about special brain MRI alterations and neuropathological changes in the muscle and peripheral nerves.

Case presentation

Our patients with TWNK-dependent Perrault syndrome had severe bilateral hypoacusis, severe ataxia, polyneuropathy, lower limb spastic paraparesis with pyramidal signs, and gonadal dysgene

SUBMITTER: Fekete B 

PROVIDER: S-EPMC6921552 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature